[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects].

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Article

[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects].

Annales de dermatologie et de venereologie - 1 Jan 1995

Germain D

Abstract excerpt

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. Considerable clinical and genetic heterogeneity exists, and more than nine separate forms have been recognized. Recent advances in the molecular analysis of EDS have identify defects responsible for EDS VI (homozygous and...

Topics

Collagen
Ehlers-Danlos Syndrome
Female
Fibroblasts
Genetic Counseling
Humans
Male
Molecular Biology
Mutation
Procollagen

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Open in PubMed

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PMID: 8526413

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